ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		0.780 Biomarker disease MGD
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		0.740 CausalMutation disease CLINVAR
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		0.740 Biomarker disease CTD_human
CUI: C1846171
Disease: Lissencephaly, X-Linked, 2
Lissencephaly, X-Linked, 2 		0.740 GeneticVariation disease CLINVAR
CUI: C1846171
Disease: Lissencephaly, X-Linked, 2
Lissencephaly, X-Linked, 2 		0.740 CausalMutation disease CLINVAR
CUI: C1846171
Disease: Lissencephaly, X-Linked, 2
Lissencephaly, X-Linked, 2 		0.740 Biomarker disease CTD_human
CUI: C1846171
Disease: Lissencephaly, X-Linked, 2
Lissencephaly, X-Linked, 2 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0796124
Disease: Proud Syndrome
Proud Syndrome 		0.700 CausalMutation disease CLINVAR
CUI: C0796124
Disease: Proud Syndrome
Proud Syndrome 		0.700 Biomarker disease CTD_human
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 Biomarker disease CTD_human
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		0.700 GeneticVariation disease CLINVAR
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 GeneticVariation disease CLINVAR
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 Biomarker disease CTD_human
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 Biomarker disease CTD_human
CUI: C1846172
Disease: Hydranencephaly and Abnormal Genitalia
Hydranencephaly and Abnormal Genitalia 		0.600 CausalMutation disease CLINVAR
CUI: C1846172
Disease: Hydranencephaly and Abnormal Genitalia
Hydranencephaly and Abnormal Genitalia 		0.600 Biomarker disease CTD_human
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.500 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.460 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.460 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.300 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.160 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.150 GeneticVariation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.150 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.150 Biomarker disease HPO